Ignite Creation Date:
2024-05-06 @ 8:45 AM
Last Modification Date:
2024-10-26 @ 12:04 PM
Study NCT ID:
NCT02810327
Status:
COMPLETED
Last Update Posted:
2019-07-22
First Post:
2016-06-20
Brief Title:
Alpha-1 Carrier Genomics Study
Sponsor:
Medical University of South Carolina
Organization:
Medical University of South Carolina
Study Overview
Official Title:
Alpha-1 Carrier Genomics Study
Status:
COMPLETED
Status Verified Date:
2019-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The goal of this study is to better understand why some Alpha-1 genotype MZ PiMZ individuals develop chronic obstructive pulmonary disease COPD while others do not This study will examine portions of the Alpha-1 gene that are not routinely tested to determine whether other changes in this gene correlate with development and progression of COPD Participation involves responding to questionnaires about lung health and history and performing an at-home finger stick to obtain blood spots using a test kit that is mailed The blood provided will be used for genetic testing and correlation of results with COPD history Participants will receive their results and access to genetic counseling at the conclusion of the study
Detailed Description:
Alpha-1 Antitrypsin Deficiency AATD Alpha-1 is the best established genetic risk factor for chronic obstructive pulmonary disease COPD and liver disease Clinical presentation is heterogeneous in most genotypic populations of alpha-1 antitrypsin deficiency AATD and genetic variation in the Alpha-1 gene has been incompletely studied Rare gene alterations that predispose to COPD risks of classic AATD in individuals without a classic homozygous deficiency genotype have not been studied and are important in understanding testing and treating at-risk populations Investigators hypothesize that SERPINA1 gene sequencing will find important sequence variations in previously assessed MZ individuals who have COPD compared to age race sex AAT level and smoking status matched MZ individuals who do not have COPD
The Alpha-1 Carrier Genomics study is a pilot study that will enroll up to 150 MZ individuals COPD and COPD- individuals will be matched on age sex race and smoking history Presence and severity of COPD is assessed by a COPD severity score on questionnaires Participants will be mailed a test kit to obtain and return a blood sample by finger stick for the purpose of SERPINA1 gene sequencing Gene sequencing will identify if present genomic signatures that may correlate with COPD in this cohort Participants will receive their results and access to genetic counseling at the conclusion of this study
The Alpha-1 Carrier Genomics study is a pilot study that will enroll up to 150 MZ individuals COPD and COPD- individuals will be matched on age sex race and smoking history Presence and severity of COPD is assessed by a COPD severity score on questionnaires Participants will be mailed a test kit to obtain and return a blood sample by finger stick for the purpose of SERPINA1 gene sequencing Gene sequencing will identify if present genomic signatures that may correlate with COPD in this cohort Participants will receive their results and access to genetic counseling at the conclusion of this study
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None